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rs121913598

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913598(C;T)
Make rs121913598(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position161307361
GeneMPZ
is asnp
is mentioned by
dbSNPrs121913598
ebirs121913598
HLIrs121913598
Exacrs121913598
Varsomers121913598
Maprs121913598
PheGenIrs121913598
hapmaprs121913598
1000 genomesrs121913598
hgdprs121913598
ensemblrs121913598
gopubmedrs121913598
geneviewrs121913598
scholarrs121913598
googlers121913598
pharmgkbrs121913598
gwascentralrs121913598
openSNPrs121913598
23andMers121913598
23andMe allrs121913598
SNP Nexus

SNPshotrs121913598
SNPdbers121913598
MSV3drs121913598
GWAS Ctlgrs121913598
Max Magnitude0
OMIM159440
Desc
Variant0020
Relatedalso
ClinVar
Risk rs121913598(T;T)
Alt rs121913598(T;T)
Reference rs121913598(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease
Variation info
Gene MPZ
CLNDBN Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease, demyelinating, type 1b
Reversed 1
HGVS NC_000001.10:g.161277151G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015249.27, RCV000190345.1,